Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.

Purpose: To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function.

Methods: Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG).

Retinal function and morphology in the rabbit eye after intravitreal injection of the TNF alpha inhibitor adalimumab.

Aim: To study the effects of the tumor necrosis factor alpha inhibitor adalimumab on rabbit retina after injection into the vitreous body.

Methods: Forty-eight rabbits of mixed strain (9-12 months old, weighing ≈ 3.5 kg) were randomized into four groups.

Intravitreal injection of triamcinolone acetonide into healthy rabbit eyes alters retinal function and morphology.

Aim: To study the effects of intravitreally injected triamcinolone acetonide (TA) and/or its preservative benzyl alcohol (BA) in healthy rabbit retina.

Methods: Forty-eight rabbits (aged 4 months, body weight ≈3 kg) were randomized into four groups (n = 12). They were examined with electroretinography (ERG) prior to drug exposure, and then injected intravitreally with a combination of TA and BA, TA without BA, BA alone or a balanced saline solution (BSS).

Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full-field electroretinography in patients exposed to vigabatrin medication.

Purpose: To investigate the clinical value of assessment of peripapillary retinal nerve fibre layer (RNFL) thickness with OCT in addition to the evaluation of retinal function measured by full-field electroretinography (ff-ERG) in patients with suspected vigabatrin (VGB)-attributed visual field defects.

Methods: Visual fields from adult patients in our clinical follow-up program for VGB medication were analysed. Twelve patients with suspected VGB-attributed visual field defects were selected for the study.

Retinal function and morphology in rabbit after intravitreal injection of VEGF inhibitors.

Purpose/aim: To explore changes in morphology and function in the rabbit retina after intravitreal high-dose injection of three commonly used VEGF inhibitors.

Materials And Methods: Forty-eight rabbits of mixed strain (6 months of age, body weight ≈ 3 kg) were randomized into four groups (n = 12). They were examined with full-field electroretinography (ERG) and with multifocal electroretinography (mf ERG) prior to drug exposure.

Electrophysiological studies in newly onset type 2 diabetes without visible vascular retinopathy.

The purpose of this study was to investigate the early alterations of retinal function, assessed with electrophysiology, in newly onset type 2 diabetes patients without vascular retinopathy. Seventeen patients with newly diagnosed type 2 diabetes (duration 7±3 months), without any vascular retinopathy in fundus photographs, were examined with full-field electroretinogram (ERG) and multifocal ERG (mfERG). The results were compared with those of age-matched subjects without diabetes.

Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.

Purpose: To present the clinical and electrophysiological findings in four members of a family with Best vitelliform macular dystrophy (BVMD) and angle-closure glaucoma (ACG).

Methods: Four members of a family with BVMD were examined clinically, including visual acuity, slit-lamp examination, biomicroscopy, Goldmann applanation tonometry and gonioscopy. Measurements of the anterior chamber depth and axial length, visual field, optical coherence tomography, full-field electroretinography, multifocal electroretinography and electrooculography were performed.

Electrophysiological evaluation of retinal function in children receiving vigabatrin medication.

Purpose: To evaluate retinal function in children taking vigabatrin and to explore the influence of age and dose parameters on the results of full-field electroretinography (ff-ERG).

Methods: The ff-ERGs from 14 children receiving vigabatrin were compared with ff-ERGs from healthy controls. Treated children were further grouped according to age (pre-school = 12-71 months; older = 72-228 months).

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

Purpose: To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation.

Methods: The proband with multifocal BVMD and three of her family members were examined with electrooculography (EOG), full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence tomography (OCT). Genomic DNA was screened for mutation in the BEST1 gene by DNA sequencing analysis.

Phenotypes in defined genotypes including siblings with Usher syndrome.

Objective: To characterize visual function in defined genotypes including siblings with Usher syndrome.

Methods: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed.

Long-term 12 year follow-up of X-linked congenital retinoschisis.

Purpose: To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.

Methods: Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit.

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Objective: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene.

Methods: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography.

Alteration of rod and cone function in children with Usher syndrome.

Purpose: To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome.

Methods: Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five children were repeatedly examined (follow-up 5-10 years) with full-field ERG under local anesthesia and in 2 children multifocal ERG and optical coherence tomography (OCT) were performed.

Using multifocal electroretinography hard exudates affect macular function in eyes with diabetic retinopathy.

Unlabelled: To evaluate the influence of hard exudates on macular function in patients with diabetic retinopathy.

Methods: Thirty seven eyes from 27 diabetic patients, aged 57 +/- 14 years, diabetes duration 12.5 +/- 9 years, not previously treated with photocoagulation, underwent fundus photography, multifocal electroretinography (mfERG) and optical coherence tomography (OCT).

Improved retinal function after trabeculectomy in glaucoma patients.

Purpose: To investigate retinal function after reduction of intraocular pressure (IOP) by filtration surgery in patients with medically uncontrolled glaucoma.

Methods: Eleven patients (11 eyes) with medically uncontrolled glaucoma underwent trabeculectomy. Clinical investigation, visual field (testing with standard automated perimetry (SAP-Humphrey), optical coherence tomography (OCT), full-field electroretinography (full-field ERG) and multifocal electroretinography (mfERG) were performed preoperatively as well as 2 and 6 months after surgery.

Thyroid-associated ophthalmopathy after treatment for Graves' hyperthyroidism with antithyroid drugs or iodine-131.

Context: Previous randomized trials have suggested an association between radioiodine treatment for Graves' hyperthyroidism and thyroid-associated ophthalmopathy (TAO).

Objectives: The aim of the study was to compare the occurrence of worsening or development of TAO in patients who were treated with radioiodine or antithyroid drugs.

Design: We conducted a randomized trial (TT 96) with a follow-up of 4 yr.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.

Electrophysiological evaluation and visual outcome in patients with central retinal vein occlusion, primary open-angle glaucoma and neovascular glaucoma.

Purpose: To evaluate patients with central retinal vein occlusion (CRVO) and neovascular glaucoma (NVG) using electrophysiology in order to gain better understanding of visual outcome and risk factors, such as previously diagnosed primary open-angle glaucoma (POAG).

Methods: Eighty-three patients (83 eyes) initially presenting with CRVO and examined with full-field electroretinography (ERG) within 3 months of the thrombotic event were analysed retrospectively regarding treatment, risk factors and visual outcome. In addition, 30 patients initially presenting with NVG caused by CRVO were also investigated regarding risk factors using electrophysiology in order to determine the cause of their visual impairment.

Dose-related changes in retinal function and PKC-alpha expression in rabbits on vigabatrin medication. Effect of vigabatrin in the rabbit eye.

Background: To investigate, in a rabbit model, the effect of two different doses of vigabatrin (VGB) on retinal function and morphology.

Methods: Twenty-nine rabbits of mixed strain were divided into two groups, receiving either high-dose (n = 15) or low-dose (n = 14) oral VGB treatment (cumulative dose 29.8 +/- 2.

Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).

Purpose: To characterize the clinical phenotype regarding retinal function and macular appearance in patients with spinocerebellar ataxia type 7 (SCA 7), with an emphasis on electrophysiological findings.

Methods: Three patients from two Swedish families were given an ophthalmological examination including visual acuity, fundus inspection, Farnsworth's color vision test, Goldmann perimetry, full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence tomography (OCT). DNA was analyzed with polymerase chain reaction for CAG trinucleotide expansion repeats in the SCA 7 gene.

Rifabutin accumulates in the lens and reduces retinal function in the rabbit eye.

Purpose: To study the toxicology of rifabutin in the rabbit eye with emphasis on retinal function and histopathology.

Methods: Seven rabbits received a daily dose of rifabutin during 15 months. Six rabbits receiving only the vehicle were used as controls.

Multifocal electroretinogram (mfERG) in patients with diabetes mellitus and an enlarged foveal avascular zone (FAZ).

Purpose: To assess the relationship between foveal microcirculation and central retinal function in diabetic patients having both an enlarged foveal avascular zone (FAZ) and a preserved visual acuity (0.6 or better).

Methods: Twenty-five patients with diabetes type 1 or 2 with an enlarged FAZ (largest diameter > 650 microm) measured in fluorescein angiograms were examined with multifocal ERG (mfERG).

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Objectives: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG).

Methods: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs.

Results: Electroretinography demonstrated cone-rod degeneration in all 3 patients.

Full-field ERG and visual fields in patients 5 years after discontinuing vigabatrin therapy.

Purpose: In numerous studies vigabatrin medication has been associated with visual field constriction and alterations in the full-field electroretinogram (ff-ERG), but it is not clear whether these changes are reversible or not. The purpose of this study was to examine patients with visual field loss and reduced ff-ERG several years after discontinuing vigabatrin therapy, in order to investigate reversibility.

Methods: Eight patients with visual field constriction and reduced cone responses measured by 30 Hz flicker ERG were examined with Goldmann perimetry and ff-ERG 4-6 years after discontinuing medication.

Retinal function and histopathology in rabbits treated with Topiramate.

Purpose: To evaluate retinal function and histopathology in rabbits treated orally with the anti-epileptic drug topiramate.

Methods: Six rabbits were treated with a daily oral dose of topiramate during a period of eight months. Six rabbits receiving water served as controls.